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Ruthild Weber

Genetikerin

Name	Ruthild Weber
Place	Heidelberg (Wirkungsort) Hannover (2012-) (Wirkungsort) Deutschland
Academic degree	Prof. Dr. med. (an der Medizinischen Fakultät der Universität Heidelberg)
Profession	Genetikerin (characteristic profession)
Variant	Ruthild Gisela Weber Ruthild G. Weber
Related	Medizinische Hochschule Hannover (2012-) Medizinische Hochschule Hannover. Institut für Humangenetik (2012-)
Further information	Leitung: TEAM Neuroonkogenetik/Genetik seltener Erkrankungen des Gehirns und der Nieren, Institut für Humangenetik, Medizinische Hochschule Hannover
Record type	Person
GND-Identifier	1077763166
Record ID	1077763166
Involved in show all Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract POLE, POLD1 und CDH1 als Gliomprädispositionsgene : Identifizierung von seltenen tumorassoziierten Keimbahnvarianten in Gliomfamilien und deren Charakterisierung durch Untersuchung von Tumoren von Variantenträgern und Zellmodellen Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families = Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases [epsilon] and [delta] in glioma families Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2 A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin Heterozygous DHTKD1 variants in two European cohorts of amyotrophic lateral sclerosis patients Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin Rare heterozygous GDF6 variants in patients with renal anomalies SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia Rare heterozygous GDF6 variants in patients with renal anomalies FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas Kongenitale Anomalien der Nieren und ableitenden Harnwege (CAKUT) Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23

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Ruthild Weber

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract

POLE, POLD1 und CDH1 als Gliomprädispositionsgene : Identifizierung von seltenen tumorassoziierten Keimbahnvarianten in Gliomfamilien und deren Charakterisierung durch Untersuchung von Tumoren von Variantenträgern und Zellmodellen

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families = Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases [epsilon] and [delta] in glioma families

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

Heterozygous DHTKD1 variants in two European cohorts of amyotrophic lateral sclerosis patients

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

Rare heterozygous GDF6 variants in patients with renal anomalies

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

Rare heterozygous GDF6 variants in patients with renal anomalies

FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas

Kongenitale Anomalien der Nieren und ableitenden Harnwege (CA﻿KUT)

Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23

Kongenitale Anomalien der Nieren und ableitenden Harnwege (CAKUT)